Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome (Q37517198)

20 August 2017

Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome (English)

1 reference

20 August 2017

1 reference

Lian-Yu Lin

1 reference

20 August 2017

Wen-Pin Chen

0 references

Chih-Chieh Yu

0 references

Tzu-Pin Lu

0 references

Jyh-Ming Jimmy Juang

0 references

Liang-Chuan Lai

0 references

Chia-Ti Tsai

0 references

Fu-Tien Chiang

0 references

Ling-Ping Lai

0 references

Juey-Jen Hwang

0 references

Jiunn-Lee Lin

1 reference

20 August 2017

Eric Y Chuang

1 reference

20 August 2017

Yen-Bin Liu

1 reference

20 August 2017

Chia-Hsiang Hsueh

1 reference

20 August 2017

Sherri Shih-Fan Yeh

1 reference

20 August 2017

language of work or name

English

0 references

publication date

27 January 2014

1 reference

20 August 2017

1 reference

20 August 2017

1 reference

20 August 2017

3850

1 reference

Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported

20 August 2017

start time

27 January 2014

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

cites work

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Molecular mechanisms of disease-causing missense mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

23 August 2017

Brugada syndrome 2012.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Brugada-type electrocardiogram in the Taiwanese population--is it a risk factor for sudden death?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

CDD: a Conserved Domain Database for the functional annotation of proteins

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

DUFs: families in search of function

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Computational analysis of missense mutations causing Snyder-Robinson syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

A method and server for predicting damaging missense mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Protein structure prediction on the Web: a case study using the Phyre server

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Approaches and resources for prediction of the effects of non-synonymous single nucleotide polymorphism on protein function and interactions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Nav1.5/R1193Q polymorphism is associated with both long QT and Brugada syndromes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Distribution and intensity of constraint in mammalian genomic sequence

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

RONN: the bio-basis function neural network technique applied to the detection of natively disordered regions in proteins

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Potassium channel structures

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

"Brugada" syndrome: clinical data and suggested pathophysiological mechanism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Arrhythmogenic Marker for the Sudden Unexplained Death Syndrome in Thai Men

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Progress in detecting genetic alterations and their association with human disease

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Use of germline polymorphisms in predicting concurrent chemoradiotherapy response in esophageal cancer

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3902491

2 September 2018

The UCSC Genome Browser

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FSREP03850

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24463578

12 December 2020

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/24463578

12 December 2020

inferred from PubMed ID database lookup

Genomic organization of the human SCN5A gene encoding the cardiac sodium channel

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24463578

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/SREP03850

1 reference

release_kq3qcum6gjbudmuk4tjsuuin5u

20 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kq3qcum6gjbudmuk4tjsuuin5u

24 November 2022

mapped directly with Wikidata item

1 reference

20 August 2017

PubMed publication ID

24463578

1 reference